Gene Symbol:
PNPLA6
HGNC:16268
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19p13.2
Filters:

Definitive classifications

ataxia-hypogonadism-choroidal dystrophy syndrome
Submitted as: OMIM:215470
AR
08/30/2017
Evaluated
09/11/2023
Submitted
retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
AR
05/30/2023
Evaluated
04/21/2024
Submitted
PNPLA6-related spastic paraplegia with or without ataxia
AR
11/13/2023
Evaluated
04/21/2024
Submitted

Strong classifications

hereditary spastic paraplegia 39
Submitted as: OMIM:612020
AR
07/08/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

Laurence-Moon syndrome
Submitted as: Orphanet:2377
AR
09/14/2021
Evaluated
09/14/2021
Submitted
cerebellar ataxia-hypogonadism syndrome
Submitted as: Orphanet:1173
AR
09/14/2021
Evaluated
09/14/2021
Submitted
ataxia-hypogonadism-choroidal dystrophy syndrome
Submitted as: Orphanet:1180
AR
09/14/2021
Evaluated
09/14/2021
Submitted
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Submitted as: Orphanet:3363
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 39
Submitted as: Orphanet:139480
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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